Phenylketonuria occurs when there is a mutation of the PAH gene, which produces the enzyme responsible for the breakdown of phenylalanine called phenylalanine hydroxylase. Without enough ...

Scientists and clinicians have historically categorized PKU as a problem with the gene that encodes the enzyme phenylalanine hydroxylase (PAH), which converts the amino acid phenylalanine into ...

It also says that the enzyme 25-hydroxylase is not always active but is triggered by vitamin D3 and UV-B light. This allows active vitamin D (1,25(OH)2D) to be made and used within the cell.

Sepiapterin has a dual mechanism of action to increase activity of the phenylalanine hydroxylase enzyme in patients with PKU, a rare, inherited metabolic disease. The new data revealed that over ...

Stone and Meister discovered that vitamin C is used as a co-substrate by peptidyl-prolyl hydroxylase, an enzyme that catalyzes the selective modification of proline to hydroxyproline. This ...

PTC Therapeutics, Inc. (NASDAQ: PTCT) today shared new data being presented from the Phase 3 APHENITY trial and subsequent open-label extension study at the 2025 American College of Medical Genetics ...